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Article

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology - 1 Jan 2009

Castronovo Paola, Gervasini Cristina, Cereda Anna, Masciadri Maura, Milani Donatella, Russo Silvia, Selicorni Angelo, Larizza Lidia

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital anomaly/mental retardation syndrome characterized by clinical variability and caused by mutations in the NIPBL (50-60%), SMC1L1 and SMC3 genes (5%), which encode for proteins involved in sister chromatid cohesion. Almost all of the studies of premature chromatid separation (PCS) in CdLS patients have failed to demonstrate that it is specific to...

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Source

Identifiers

PMID: 19690971
DOI: 10.1007/s10577-009-9066-6

Genes

NIPBL
SMC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.PMID 19690971Read ↗

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Semantic proximity Read ↗

On the molecular etiology of Cornelia de Lange syndrome.Semantic proximity Read ↗

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.Semantic proximity Read ↗

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.Semantic proximity Read ↗

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.Semantic proximity Read ↗

Cornelia de Lange Syndrome-associated mutations in Smc1 cause both sister chromatid cohesion and cohesion-independent defectsSemantic proximity Read ↗

Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repairSemantic proximity Read ↗

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.Semantic proximity Read ↗

Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome.Semantic proximity Read ↗

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.Semantic proximity Read ↗

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